PDF(Pubmed)
Abstract：
UNASSIGNED: Hypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.
UNASSIGNED: A teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent pneumonia. His peripheral blood lymphocyte count and serum level of immunoglobulin (Ig) G were normal, but he exhibited a T+B-NK+ immunophenotype. Genetic analysis by whole exome sequencing revealed compound heterozygous mutations of DCLRE1C (NM_001033855.3), including a novel paternal splicing donor mutation (c.109 + 2T>C) in intron 1, and a maternal c.1147C>T (p.R383X) nonsense mutation in exon 13. Based on his clinical features and genetic results, the diagnosis of atypical SCID with colon lymphoma was established. Our review shows that seven patients, including our patient, have been reported to develop lymphoma, all with hypomorphic DCLRE1C mutations. Among these cases, six had EBV-related B-cell lineage lymphoma, and one had Hodgkin lymphoma with EBV reactivation. Unfortunately, all of the patients died.
UNASSIGNED: Recognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment.
UNASSIGNED: A teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent pneumonia. His peripheral blood lymphocyte count and serum level of immunoglobulin (Ig) G were normal, but he exhibited a T+B-NK+ immunophenotype. Genetic analysis by whole exome sequencing revealed compound heterozygous mutations of DCLRE1C (NM_001033855.3), including a novel paternal splicing donor mutation (c.109 + 2T>C) in intron 1, and a maternal c.1147C>T (p.R383X) nonsense mutation in exon 13. Based on his clinical features and genetic results, the diagnosis of atypical SCID with colon lymphoma was established. Our review shows that seven patients, including our patient, have been reported to develop lymphoma, all with hypomorphic DCLRE1C mutations. Among these cases, six had EBV-related B-cell lineage lymphoma, and one had Hodgkin lymphoma with EBV reactivation. Unfortunately, all of the patients died.
UNASSIGNED: Recognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment.
摘要：
■DCLRE1C的低态突变会导致非典型的严重联合免疫缺陷（SCID），EB病毒（EBV）相关性结肠淋巴瘤是一种罕见的并发症。
■一个十几岁的男孩出现结肠EBV相关性结肠淋巴瘤，足底疣,有反复肺炎病史.患者外周血淋巴细胞计数及血清免疫球蛋白(Ig)G水平正常,但他表现出T+B-NK+免疫表型.通过全外显子组测序进行的遗传分析显示DCLRE1C（NM_001033855.3）的复合杂合突变，包括内含子1中的新父系剪接供体突变（c.1092T>C）和母系c.147C>T（p。外显子13中的R383X）无义突变。根据他的临床特征和遗传结果,确定了非典型SCID合并结肠淋巴瘤的诊断.我们的审查显示，七名患者，包括我们的病人,据报道会发展成淋巴瘤，都有低态DCLRE1C突变。在这些案例中,6人患有EBV相关的B细胞谱系淋巴瘤，其中一人患有霍奇金淋巴瘤伴EBV再激活。不幸的是,所有的病人都死了.
■认识到疾病的放射敏感性对预后至关重要。在感染EBV之前进行造血干细胞移植是最佳治疗方法。
■一个十几岁的男孩出现结肠EBV相关性结肠淋巴瘤，足底疣,有反复肺炎病史.患者外周血淋巴细胞计数及血清免疫球蛋白(Ig)G水平正常,但他表现出T+B-NK+免疫表型.通过全外显子组测序进行的遗传分析显示DCLRE1C（NM_001033855.3）的复合杂合突变，包括内含子1中的新父系剪接供体突变（c.1092T>C）和母系c.147C>T（p。外显子13中的R383X）无义突变。根据他的临床特征和遗传结果,确定了非典型SCID合并结肠淋巴瘤的诊断.我们的审查显示，七名患者，包括我们的病人,据报道会发展成淋巴瘤，都有低态DCLRE1C突变。在这些案例中,6人患有EBV相关的B细胞谱系淋巴瘤，其中一人患有霍奇金淋巴瘤伴EBV再激活。不幸的是,所有的病人都死了.
■认识到疾病的放射敏感性对预后至关重要。在感染EBV之前进行造血干细胞移植是最佳治疗方法。
